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Gene : EMG1 Homo sapiens

Name  ? EMG1 N1-specific pseudouridine methyltransferase Cytological Location  12p13.31
Brief Description  EMG1 N1-specific pseudouridine methyltransferase
Description  This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
  • synonyms:
  • EMG1 nucleolar protein homolog (S. cerevisiae),
  • HGNC:16912,
  • EMG1,
  • NM_006331,
  • Grcc2f,
  • U72514,
  • C2F,
  • EMG1, N1-specific pseudouridine methyltransferase,
  • NEP1,
  • OTTHUMG00000168968,
  • NEP1,
  • uc031ysa.2,
  • Grcc2f,
  • C2F
  • identifiers:
  • 10436,
  • ENSG00000126749,
  • EMG1

Genome feature

Region: gene ? Length: 26516  
Location: 12:6970913-6997428 Cyto location: 12p13.31

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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313 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results